ClinVar Miner

Variants studied for Nephronophthisis 15

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
73 70 661 549 49 2 1353

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP164 72 70 660 549 49 2 1351
APOA1, APOA4, APOA5, APOC3, BACE1, CEP164, DSCAML1, FXYD2, FXYD6, FXYD6-FXYD2, IL10RA, PAFAH1B2, PCSK7, RNF214, SIDT2, SIK3, TAGLN, TMPRSS13 1 0 0 0 0 0 1
CEP164, DSCAML1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 68 32 564 537 48 0 1249
Fulgent Genetics, Fulgent Genetics 2 41 251 57 1 0 352
Genome-Nilou Lab 0 0 0 0 8 0 8
OMIM 5 0 0 0 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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